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episodic ataxia type 1
Summary
- Definition
- An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
- Super Class
- episodic ataxia
External Links
- Disease Ontology
- DOID:0050989
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3736 | KCNA1 | potassium voltage-gated channel subfamily A member 1 | |
| 3737 | KCNA2 | potassium voltage-gated channel subfamily A member 2 | |
| 3738 | KCNA3 | potassium voltage-gated channel subfamily A member 3 | |
| 3739 | KCNA4 | potassium voltage-gated channel subfamily A member 4 | |
| 3743 | KCNA7 | potassium voltage-gated channel subfamily A member 7 | |
| 3744 | KCNA10 | potassium voltage-gated channel subfamily A member 10 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16485 | Kcna1 | potassium voltage-gated channel, shaker-related subfamily, member 1 | |
| 16490 | Kcna2 | potassium voltage-gated channel, shaker-related subfamily, member 2 | |
| 16491 | Kcna3 | potassium voltage-gated channel, shaker-related subfamily, member 3 | |
| 16492 | Kcna4 | potassium voltage-gated channel, shaker-related subfamily, member 4 | |
| 16493 | Kcna5 | potassium voltage-gated channel, shaker-related subfamily, member 5 | |
| 16495 | Kcna7 | potassium voltage-gated channel, shaker-related subfamily, member 7 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24520 | Kcna1 | potassium voltage-gated channel subfamily A member 1 | |
| 25468 | Kcna2 | potassium voltage-gated channel subfamily A member 2 | |
| 25469 | Kcna4 | potassium voltage-gated channel subfamily A member 4 | |
| 29731 | Kcna3 | potassium voltage-gated channel subfamily A member 3 |
